BBS mutations modify phenotypic expression of CEP290-related ciliopathies

Human Molecular Genetics

Volumn 23, Issue 1, 2014, Pages 40-51

  Zhang, Yan ^a   Seo, Seongjin ^a   Bhattarai, Sajag ^a   Bugge, Kevin ^a,b   Searby, Charles C ^a,b   Zhang, Qihong ^a,b   Drack, Arlene V ^a   Stone, Edwin M ^a,b   Sheffield, Val C ^a,b  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BARDET BIEDL SYNDROME PROTEIN; CEP290 PROTEIN; MEMBRANE PROTEIN; SMALL INTERFERING RNA; STAT3 PROTEIN; UNCLASSIFIED DRUG;

ALLELE; AMINO TERMINAL SEQUENCE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BARDET BIEDL SYNDROME; CENTRIOLE; CILIATED EPITHELIUM; CILIOPATHY; CONTROLLED STUDY; CYTOPLASM; DELETION MUTANT; EUKARYOTIC FLAGELLUM; GENE INTERACTION; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN CELL; MOUSE; NONHUMAN; OBESITY; PHENOTYPE; PHENOTYPIC VARIATION; PHOTORECEPTOR; PHOTORECEPTOR CELL; PHOTORECEPTOR CONNECTING CILIUM; PHOTORECEPTOR OUTER SEGMENT; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; RETINA DEGENERATION; WEIGHT GAIN;

ANIMALS; ANTIGENS, NEOPLASM; BARDET-BIEDL SYNDROME; BINDING SITES; BODY WEIGHT; CELL LINE; CENTRIOLES; CILIA; DISEASE MODELS, ANIMAL; HEK293 CELLS; HUMANS; MICE; MICE, TRANSGENIC; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION; NEOPLASM PROTEINS; NUCLEAR PROTEINS; PHENOTYPE; PHOTORECEPTOR CELLS; RETINA;

EID: 84890369088     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt394     Document Type: Article

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